(aka) Pachyonychia Congenita Fund
2386 East Heritage Way, Suite B
PO Box 9010
Salt Lake City, UT 84109-0100
Janice Schwartz suffers from Pachyonychia Congenita an ultra-rare disease which strikes so few people that Janice didn't meet anyone with PC until she was 36 years old. "I felt I wasn't alone in the world," said Schwartz, now 43, of the encounter. "Instead of thinking I'm just this bizarre person, this freak, there are other people who have it." Those with PC constantly battle painful calluses and blisters on their feet and there's no effective treatment other than managing the pain, which Schwartz does with the help of crutches, an electric wheelchair and a rolling office chair in the kitchen. But their lives could change thanks to PC Project, a patient advocacy group formed to support research for PC.
Individuals with rare diseases are often so scattered that little progress can be made on treatment. Less than 20 percent of those rare diseases have patient registries, according to Yaffa Rubinstein, the director for patient resources at the NIH Office of Rare Diseases Research. "So if you want to do any study or clinical trial in a meaningful way you have to locate these patients," she said. PC Project started collecting patient information in 2004 for researchers around the world. Free genetic screening is available, as well as physician consultation and patient support. About 1,100 people in more than 50 countries have been identified so far. Recently PC Project was selected to participate in the Global Rare Disease Registry at NIH. The ultimate goal is treatment and cures.
Schwartz has donated biopsies for scientific study and she participated in a clinical trial which had good results. Research is now moving forward to the next study scheduled for Fall 2012.